Hear from Andreas Gschwind, PhD, as he highlights enhancer-gene mapping, CRISPR perturbation data, predictive models, and tools within the IGVF catalog.
youtu.be/jVxcwRXZYMc
Looking for information on a gene, variant, or genomic region?
The IGVF catalog brings together experimental data and computational predictions from the IGVF Consortium and other resources on a single searchable platform.
catalog.igvf.org
Explore the IGVF YouTube channel for workshop recordings, research presentations, consortium updates, and insights from scientists working to understand how genomic variation impacts genome function.
www.youtube.com/@igvf
MPRA is an R package that provides tools for the differential analysis of Massively Parallel Reporter Assay (MPRA) data, helping researchers investigate regulatory element activity at scale.
Explore MPRA: github.com/hansenlab/mpra
Roulette is a basepair-resolution model for predicting germline de novo mutation rates across the human genome, helping uncover mechanisms that shape mutagenesis, including the impact of Polymerase III transcription.
Explore the tool: github.com/vseplyarskiy...
IGVF has adopted seqspec, a machine-readable standard helping improve reproducibility, transparency, and interoperability across functional genomics datasets.
Learn how seqspec is supporting scalable data sharing and QC across IGVF: igvf.org/news/seqspec/
Hear from Karen Mohlke, PhD, as she introduces the IGVF Consortium and its efforts to build a functional genomics resource connecting genetic variation to genome function and disease.
Check out the full presentation: youtu.be/CbCILxe_eSI?...
Why build a comprehensive variant effects catalog?
Katherine Degner, PhD, explains how a trusted, centralized resource can help researchers explore how genes impact different tissues and cell types, all in one place.
▶️ youtu.be/Iof2mfE6sRM
IGVF Adopts 'seqspec' to Advance Reproducibility and Data Standards in Functional Genomics
Saturation genome editing of BARD1 variants resolves 95% of variants of uncertain significance, linking functional effects to cancer risk with high accuracy (AUC=0.99).
Uncover the science behind it: www.medrxiv.org/content/10.1...
How can researchers access and build on IGVF resources?
In this workshop presentation, Michael Love, PhD, highlights the IGVF data portal, catalog, APIs, and computational tools supporting reproducible functional genomics research.
youtu.be/W6Mr7O7gUNY
BARD1 variants are associated with hereditary breast cancer and neuroblastoma, yet, 98% of missense variants remain variants of uncertain significance (VUS). We applied Saturation Genome Editing (SGE)...
